| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2593255G>A | CA301396 | CACNA1C | c.2648G>A (p.Arg883His) c.2573G>A (p.Arg858His) c.1065G>A c.2663G>A (p.Arg888His) c.2564G>A (p.Arg855His) c.2738G>A (p.Arg913His) c.*1180G>A (n.*1180G>A) c.*2193G>A (n.*2193G>A) c.408G>A c.2096G>A (p.Arg699His) c.1733G>A (p.Arg578His) c.1178G>A (p.Arg393His) c.2936G>A (p.Arg979His) c.2741G>A (p.Arg914His) c.2816G>A (p.Arg939His) c.2732G>A (p.Arg911His) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 12 | g.2593255G= | CA2012308923 | CACNA1C | c.2648G= (p.Arg883=) c.2573G= (p.Arg858=) c.1065G= c.2663G= (p.Arg888=) c.2564G= (p.Arg855=) c.2738G= (p.Arg913=) c.*1180G= (n.*1180G=) c.*2193G= (n.*2193G=) c.408G= c.2096G= (p.Arg699=) c.1733G= (p.Arg578=) c.1178G= (p.Arg393=) c.2936G= (p.Arg979=) c.2741G= (p.Arg914=) c.2816G= (p.Arg939=) c.2732G= (p.Arg911=) | dbSNP |
| 12 | g.2593255G>T | CA383372154 | CACNA1C | c.2648G>T (p.Arg883Leu) c.2573G>T (p.Arg858Leu) c.1065G>T c.2663G>T (p.Arg888Leu) c.2564G>T (p.Arg855Leu) c.2738G>T (p.Arg913Leu) c.*1180G>T (n.*1180G>T) c.*2193G>T (n.*2193G>T) c.408G>T c.2096G>T (p.Arg699Leu) c.1733G>T (p.Arg578Leu) c.1178G>T (p.Arg393Leu) c.2936G>T (p.Arg979Leu) c.2741G>T (p.Arg914Leu) c.2816G>T (p.Arg939Leu) c.2732G>T (p.Arg911Leu) | ClinVar dbSNP gnomAD v4 |